Human Genetics of Defects of Situs.
Adv Exp Med Biol
; 1441: 705-717, 2024.
Article
en En
| MEDLINE
| ID: mdl-38884744
ABSTRACT
Defects of situs are associated with complex sets of congenital heart defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed. The cellular and molecular mechanisms underlying the formation of the embryonic left-right axis have been investigated extensively in the past decade. This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary proteins. A substantial overlap of these genes is observed with genes associated with other congenital heart diseases such as tetralogy of Fallot and double-outlet right ventricle, d-transposition of the great arteries, and atrioventricular septal defects. In this chapter, we present the broad genetic heterogeneity of situs defects including recent human genomics efforts.
Palabras clave
ACVR2B; Atrioventricular septal defects; CFC1; CNVs; CRELD1; Cardiac transcription factors; Ciliary genes; Copy-number variations; DNAH11; DNAH5; DNAH6; DNAI1; Dextrocardia; Double-outlet right ventricle; GATA4; GDF1; Heterotaxy; Histone-modifying genes; Kartagener syndrome; LEFTY2; MMP21; MNS1; Motile cilia; NKX25; NME7; NODAL; NPHP; NPHP2; NPHP3; NPHP4; NUP205; NUP210; Nephronophthisis; PCD; PKD1L1; PKD2; Primary cilia; Primary ciliary dyskinesia; SHROOM3; Signaling pathways; Situs ambiguus; Situs defects; Situs inversus; Tetralogy of Fallot; WDR16; Whole-exome sequencing; ZIC3; d-Transposition of the great arteries
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación
Límite:
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Estados Unidos